Phenotype #0000001025

Individual ID 00002046
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia
Biochem 7DHC: 336 ug/ml
Protein -
Severity_score 11
Age/Diagnosis 05y
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2010-04-26 17:15:02 +02:00 (CEST)
Date last edited 2012-09-28 15:00:59 +02:00 (CEST)

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